Property Summary

NCBI Gene PubMed Count 42
PubMed Score 75.21
PubTator Score 82.70

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.100 1.3e-05
psoriasis 1.200 1.6e-03

Pathway (1)

Protein-protein Interaction (7)

Gene RIF (25)

PMID Text
26136520 demonstration of 2 additional mutations in the IGHMBP2 gene associated with hereditary motor and sensory neuropathy
25881701 IGHMBP2 overexpression may promote invasion and migration of esophageal squamous carcinoma cells through down-regulation of E-cadherin.
25568292 Mutations in IGHMBP2 were identified in patients presenting with axonal sensorimotor neuropathy.
25439726 Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
25248952 Spinal muscular atrophy with respiratory distress type 1 that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin mu-binding protein.
24388491 6 novel IGHMBP2 mutations were identified in 5 SMARD1 patietns
24022109 The IGHMBP2 gene was not found to be a major causative gene linked to Han Chinese non-5q-spinal muscular atrophy patients.
22999958 report the NMR structure of the Smubp2-R3H in complex with deoxyguanosine 5'-monophosphate (dGMP) mimicking the 5'-end of single-stranded DNA
22965130 Results reveal the critical role of the R3H domain in modulation of enzymatic and RNA-binding activities of Ighmbp2.
22791546 Genetic studies identified 2 mutations in the gene IGHMBP2. These results support the consideration of this entity as a form of sensory-motor rapidly progressive polyneuropathy.
22157136 mutations in the IGHMBP2 gene of patients with more favorable outcomes retained residual enzymatic activity.
20441787 Taken together, these observations suggest that the duplicated GGAA motifs are essential for the IGHMBP2 promoter activity and its positive response to TPA in HL-60 cells.
20031928 Variation in IGHMBP2 does not confer significant susceptibility to IgA nephropathy in UK Caucasian or Chinese Han populations.
20031928 Observational study of gene-disease association. (HuGE Navigator)
19158098 IGHMBP2 is functionally linked to translation, and that mutations in its helicase domain interfere with this function in distal spinal muscular atrophy type 1 patients.
19157874 SMARD1 phenotype should be considered in cases of atypical spinal muscular atrophy even in the absence of overt diaphragmatic weakness.
18802676 Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
18187620 Knockdown of immunoglobulin mu binding protein 2 (IGHMBP2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells
18187479 Juvenile SMARD1 with onset in early childhood can also be caused by mutations of IGHMBP2.5 In accordance with the known phenotypical overlapping between SOD1-associated fALS and SMA, we investigated a selected group of eight sporadic ALS patients.
16964485 2 novel heterozygous IGHMBP2 mutations in two cases of SMARD1 were identified: 1061G>A, amino acid substitution G354S, exon 7; 129delC, frameshift mutation, exon 2.
16752224 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16752224 IGHMBP2 may not have a role in development of breast cancer in female smokers
15599641 Observational study of gene-disease association. (HuGE Navigator)
15599641 association between IgA nephropathy and an SNP located in the gene encoding immunoglobulin micro-binding protein 2 (IGHMBP2) at chromosome 11q13.2-q13.4
12547203 NMR solution structure of the R3H domain from human Smubp-2

AA Sequence

MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPR      1 - 70
RYGSAAALPSNSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLA     71 - 140
NDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAVLFALSQKELA    141 - 210
IIHGPPGTGKTTTVVEIILQAVKQGLKVLCCAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSL    211 - 280
DAVLARSDSAQIVADIRKDIDQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLA    281 - 350
TNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSL    351 - 420
SLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAATEETGVPLLL    421 - 490
VDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELE    491 - 560
IKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVAVTRARRHVAVICDSRTVNNHAFLKTLVEYF    561 - 630
TQHGEVRTAFEYLDDIVPENYSHENSQGSSHAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGK    631 - 700
SLASEAPSQPSLNGGSPEGVESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHD    701 - 770
SSGEGKRRFITVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQR    771 - 840
VRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFAKCTAGVTTLG    841 - 910
QFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGSLDPAKRAQLQRRLDKKLSEL    911 - 980
SNQRTSRRKERGT                                                             981 - 993
//

Text Mined References (49)

PMID Year Title
26136520 2015 Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation.
25881701 2015 [IGHMBP2 overexpression promotes cell migration and invasion in esophageal squamous carcinoma].
25568292 2015 Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.
25439726 2014 Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
25248952 2014 The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.
24388491 2014 Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.
24022109 2014 Variations of IGHMBP2 gene was not the major cause of Han Chinese patients with non-5q-spinal muscular atrophies.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22999958 2012 Structural basis for 5'-end-specific recognition of single-stranded DNA by the R3H domain from human S?bp-2.
22965130 2012 The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22791546 2013 Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22157136 2012 The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
20441787 2010 Characterization of the promoter region of the human IGHMBP2 (Smubp-2) gene and its response to TPA in HL-60 cells.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20031928 2010 Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.
19946888 2010 Defining the membrane proteome of NK cells.
19299493 2009 Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.
19158098 2009 IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
19157874 2009 Interfamilial phenotypic heterogeneity in SMARD1.
18802676 2009 Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
18187479 2008 Sporadic ALS with early-onset respiratory failure is not associated with IGHMBP2 gene mutations.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17431882 2007 Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
16964485 2006 Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.
16752224 2006 IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15797190 2005 A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.
15599641 2005 Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15290238 2004 Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
15231747 2004 A protein interaction framework for human mRNA degradation.
15108294 2004 Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
15106121 2004 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14681881 2003 Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
12547203 2003 Solution structure of the R3H domain from human Smubp-2.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11528396 2001 Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
11292846 2001 A novel human hexameric DNA helicase: expression, purification and characterization.
10049831 1999 Smubp-2 represses the Epstein-Barr virus lytic switch promoter.
9507986 1998 Human S mu binding protein-2 binds to the drug response element and transactivates the human apoA-I promoter: role of gemfibrozil.
9439975 Translocations of 11q13 in mantle cell lymphoma fail to disrupt the S mu bp-2 gene.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
8493094 1993 Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences.
8349627 1993 The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region.
1714899 1991 A recombinant cDNA derived from human brain encodes a DNA binding protein that stimulates transcription of the human neurotropic virus JCV.